ESPE2019 Poster Category 1 Adrenals and HPA Axis (2) (12 abstracts)
Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening disease. When this happens very early in life, genetic causes should be considered. Here, we report a newborn who presented with hyperkalemia, hyponatriemia, hypoglycaemia and generalised hyperpigmentation, and was found to have primary adrenal insufficiency. This child also had concurrent issues of poor growth, sepsis and persistent pancytopenia. She was eventually diagnosed with MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital anomalies and Enteropathy) following the detection of a germline de-novo likely pathogenic variant in SAMD9 (c. 3406G>C;p. Glu1136Gln).
In addition to providing an update on this novel syndrome form of PAI, this report highlights the value of advanced genetic workup of PAI in providing a definite diagnosis to facilitate management and counselling.
19 Sep 2019 - 21 Sep 2019